The Behavioral Phenotype in Fragile X: Symptoms of Autism in Very Young Children with Fragile X Syndrome, Idiopathic Autism, and Other Developmental Disorders

Rogers, Sally J.; Wehner, Elizabeth A.; Hagerman, Randi J.

doi:10.1097/00004703-200112000-00008

Cited by 443 publications

(507 citation statements)

References 19 publications

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“…• Fragile X syndrome 109,110 : Fragile X syndrome is the most common known genetic cause of AD and of MR in males. The phenotype includes MR, macrocephaly, large pinnae, large testicles (particularly after puberty), hypotonia, and joint hyperextensibility.…”

Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

“…99,109,111 On the other hand, as many as 30% to 50% of individuals with genetically confirmed fragile X syndrome will demonstrate some characteristics of ASDs. 102,110 • • Phenylketonuria 118 : phenylketonuria now is a rare cause of ASDs and MR in the United States, because it is preventable as a result of newborn screening and dietary intervention.…”

Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

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Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,677

1,038

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Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled “Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians,” which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.

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Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,677

1,038

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“…Although prevalence estimates vary across studies, there is agreement that the risk of autism spectrum disorders (ASD) is higher in FXS than in many other neuro-developmental disorders. From recent studies, *2% to 6% of children with ASD have FXS (Li et al, 1993;Wassink et al, 2001;Estecio et al, 2002;Hagerman, 2002;Reddy, 2005), and *30% of children with FXS have ASD (see Appendix in Rogers et al, 2001;Kaufmann et al, 2004); Pervasive Developmental Disorder-Not Otherwise Specified is seen in an additional 30% (Harris et al, 2008). In fact, FXS is characterized by a broad spectrum of behavioral and emotional impairment, psychological problems, and learning disabilities in those without mental retardation or ID.…”

Section: Introductionmentioning

confidence: 99%

Identification of Expanded Alleles of theFMR1Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening

Winarni

Utari

Mundhofir

et al. 2012

Genetic Testing and Molecular Biomarkers

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The prevalence of Fragile X Syndrome (FXS) is 1 in 4000 in males and 1 in 2500 in males and females, respectively, in the general population. Several screening studies aimed at determining the prevalence of FXS have been conducted in individuals with intellectual disabilities (IDs) with a prevalence varying from 1.15% to 6.3% across different ethnic groups. A previous study in Indonesia showed an FXS prevalence of 1.9% among the ID population. A rapid, effective, and inexpensive method for FMR1 screening, using dried blood spots capable of detecting an expanded FMR1 allele in both males and females, was recently reported. We used this approach to screen 176 blood spots, collected from Central Java, Indonesia, for the presence of expanded FMR1 gene alleles. Samples were collected from high-risk populations: 112 individuals with ID, 32 obtained from individuals with diagnosis of autism spectrum disorders, and 32 individuals with a known family history of FXS. Fourteen subjects carrying an FMR1 expanded allele were identified including 7 premutations (55-200 CGG repeats) and 7 full mutations ( > 200 repeats). Of the seven subjects identified with a full mutation, one subject was from a nonfragile X family, and six from were families with a history of FXS.Introduction F ragile X syndrome (FXS), with a prevalence of 1:2500 to 1:4000 in the general population (Turner et al., 1996;Crawford et al., 2002;Hagerman, 2008), is the most common genetic cause of intellectual disability (ID) and the leading genetic cause of autism. Although prevalence estimates vary across studies, there is agreement that the risk of autism spectrum disorders (ASD) is higher in FXS than in many other neuro-developmental disorders. From recent studies, *2% to 6% of children with ASD have FXS (Li et al., 1993;Wassink et al., 2001;Estecio et al., 2002;Hagerman, 2002;Reddy, 2005), and *30% of children with FXS have ASD (see Appendix in Rogers et al., 2001;Kaufmann et al., 2004); Pervasive Developmental Disorder-Not Otherwise Specified is seen in an additional 30% (Harris et al., 2008). In fact, FXS is characterized by a broad spectrum of behavioral and emotional impairment, psychological problems, and learning disabilities in those without mental retardation or ID. In addition, specific physical features such as long face, macrognathia, prominent ears, hyperextensible joints, flat feet, and macroorchidism in puberty are observed (Hagerman et al., 1991;Lachiewicz and Dawson, 1994;Giangreco et al., 1996). The milder phenotypes are not accounted for in the current prevalence figures (Tassone et al., 1999;Hagerman, 2006). In addition, significant phenotypic involvement has emerged in some individuals with the premutation (55-200 CGG repeats), including fragile X-associated premature ovarian insufficiency (FXPOI) in females, and fragile X-associated tremor/ataxia syndrome (FXTAS) in both male and female aging carriers Sullivan et al., 2005). Prevalence for premutation alleles was *1 in 110-250 for females and 1 in 250-800 for males (Rousseau et al., 199...

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“…FXS patients suffer mental retardation, macroorchidism, facial dysmorphologies, and behavioral problems (Hagerman, 2002) as well as a high incidence of epilepsy (Musumeci et al, 1999). Because a small but significant proportion of children with autism spectrum disorder (ASD) have a mutation in the FMR1 gene (Brown et al, 1986) and up to 33% of children with FXS fulfill a diagnosis of autism (Rogers et al, 2001), FXS is considered to be a genetic model of ASD (Hagerman et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

PresynapticFmr1Genotype Influences the Degree of Synaptic Connectivity in a Mosaic Mouse Model of Fragile X Syndrome

Hanson¹,

Madison²

2007

J. Neurosci.

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Almost all female and some male fragile X syndrome (FXS) patients are mosaic for expression of the FMR1 gene, yet all research in models of FXS has been in animals uniformly lacking Fmr1 expression. Therefore, we developed a system allowing neuronal genotype to be visualized in vitro in mouse brain slices mosaic for Fmr1 expression. Whole-cell recordings from individual pairs of presynaptic and postsynaptic neurons in organotypic hippocampal slices were used to probe the cell-autonomous effects of Fmr1 genotype in mosaic networks. These recordings revealed that wild-type presynaptic neurons formed synaptic connections at a greater rate than presynaptic neurons lacking normal Fmr1 function in mosaic networks. At the same time, the postsynaptic Fmr1 genotype did not influence the probability that a neuron received synaptic connections. Asymmetric presynaptic function during development of the brain could result in a decreased participation in network function by the portion of neurons lacking FMR1 expression.

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The Behavioral Phenotype in Fragile X: Symptoms of Autism in Very Young Children with Fragile X Syndrome, Idiopathic Autism, and Other Developmental Disorders

Cited by 443 publications

References 19 publications

Identification and Evaluation of Children With Autism Spectrum Disorders

Identification and Evaluation of Children With Autism Spectrum Disorders

Identification of Expanded Alleles of theFMR1Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening

PresynapticFmr1Genotype Influences the Degree of Synaptic Connectivity in a Mosaic Mouse Model of Fragile X Syndrome

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